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Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43. doi: 10.1167/iovs.04-1136.
Invest Ophthalmol Vis Sci. 2005.
PMID: 15671307
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures.
Roman AJ, Schwartz SB, Aleman TS, Cideciyan AV, Chico JD, Windsor EA, Gardner LM, Ying GS, Smilko EE, Maguire MG, Jacobson SG.
Roman AJ, et al. Among authors: smilko ee.
Exp Eye Res. 2005 Feb;80(2):259-72. doi: 10.1016/j.exer.2004.09.008.
Exp Eye Res. 2005.
PMID: 15670804
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Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM.
Jacobson SG, et al. Among authors: smilko ee.
Hum Mol Genet. 2003 May 1;12(9):1073-8. doi: 10.1093/hmg/ddg117.
Hum Mol Genet. 2003.
PMID: 12700176
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